Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome
导致 VEXAS 综合征的 UBA1 基因中新型剪接位点变异的描述
期刊:Rheumatology
影响因子:
doi:10.1093/rheumatology/keae201
Daniela Ospina Cardona, Ignasi Rodriguez-Pinto, Sonia Iosim, Nuria Bonet, Anna Mensa-Vilaro, Mei-Kay Wong, Gary Ho, Marc Tormo, Jordi Yagüe, Wonwoo Shon, Daniel J Wallace, Ferran Casals, David B Beck, Rachel Abuav, Juan I Arostegui
